ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.191+5G>C

dbSNP: rs1553824695
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000586900 SCV000693916 uncertain significance Muscular dystrophy 2017-06-26 criteria provided, single submitter research Muscular dystrophy patient with a rare variant in TP63 (chr3:189455662 G>C) near the splice donor site after exon 2. This variant results in the skipping of exon 2 as observed in RNA sequencing and cDNA confirmation studies from the patient’s muscle. The transcripts affected by the skipping of exon 2 occur in the full length TAp63 isoforms of the protein and are expressed at high levels in muscle. The muscular dystrophy patient has a limb-girdle like phenotype, ptosis, and keloid scarring. A muscle biopsy reveals dystrophic pathology and fibrotic accumulation in the left deltoid, while the quadriceps is spared from disease.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.